Restriction site polymorphism at the LPA (Lp(a) apoliprotein; apoliprotein(a)) locus

A restriction site polymorphism in the Lp(a) apolipoprotein gene (the LPA gene) is reported. The basis for the polymorphism is presence or absence of an MspI restriction site that appears to be 3' to the last kringle IV structure of the gene. The "1" gene (presence of the restriction site) has a frequency of 0.316 and the "2" gene (absence of the restriction site) has a frequency of 0.684. Both members of each of 67 monozygotic (MZ) twin pairs had the same genotype and there was Mendelian segregation of the DNA variants in 40 families with a total of 75 children. There was a lower proportion of people with genotype 1-1 in the top quartile than in the 3 bottom quartiles of the population distribution of Lp(a) lipoprotein levels but the difference did not reach statistical significance.     

Oral health status among low‐income people admitted to Osaka Socio‐Medical Center in Japan

Objective : To examine the dental condition, perceived oral symptoms, and frequency of dental visits among low‐income people admitted to Osaka Socio‐Medical Center (OMSC) and to compare with Japanese national survey respondents. Methods : Oral health examinations for inpatients admitted to OMSC were performed from August to November 2004. In total, 113 inpatients who were in the recovery period without acute symptoms, were selected. Results : 109 inpatients received dental examination. All participants were male. About half of the subjects (49%) did not have any medical insurance, and the percentage of subjects who had 20 or more teeth was smaller than in a national survey in all age groups. The subjects had a higher reported frequency of oral symptoms compared with respondents to the national survey. Accessibility to dental clinics among subjects was notably low. Conclusion : Dental condition and perceived oral symptoms among the subjects were poor compared to national survey respondents. Dental care to improve the oral health condition of this segment of the population is needed.     

Standardization of [F-18]FDG PET/CT for response evaluation by the Radiologic Society of North America-Quantitative Imaging Biomarker Alliance (RSNA-QIBA) profile: preliminary results from the Japan-QIBA (J-QIBA) activities for Asian international multicenter phase II trial

Purpose

In an Asian international multicenter phase II trial conducted in patients with peripheral T-cell lymphoma (PTCL), [F-18]FDG-PET/CT was used for evaluation of the therapeutic response. Standardization of the PET/CT scanners was necessary before patient enrollment. We therefore standardized the scanners by phantom tests based on the profile approved by the Quantitative Imaging Biomarkers Alliance (QIBA) of Radiological Society of North America (RSNA).

Materials and methods

The tests were conducted on 12 scanners in 12 facilities in compliance with the QIBA Profile and used National Electrical Manufacturers Association (NEMA) International Electrotechnical Commission (IEC) body phantoms. We measured three parameters (standardized uptake value [SUV], resolution and noise) and adjusted the imaging parameter values. The indexes recommended in the Japanese Society of Nuclear Medicine (JSNM) guideline were also evaluated.

Results

In a total of 12 facilities, 6 facilities required no change in imaging conditions and 6 facilities required changes in imaging parameters. After revision, the three measurements (SUV, resolution and noise) met QIBA criteria at all sites, but 10 of the 12 scanners did not meet JSNM criteria.

Conclusion

We standardized imaging conditions using phantoms as required in the RSNA-QIBA profile for response evaluation by [F-18]FDG PET/CT images in a multicenter study.

     

Beyond the midbrain atrophy: wide spectrum of structural MRI finding in cases of pathologically proven progressive supranuclear palsy

Purpose

Recently, it has been recognized that pathologically proven progressive supranuclear palsy (PSP) cases are classified into various clinical subtypes with non-uniform symptoms and imaging findings. This article reviews essential imaging findings, general information, and advanced magnetic resonance imaging (MRI) techniques for PSP and presents these MRI findings of pathologically proven typical and atypical PSP cases for educational purposes.

Methods

With the review of literatures, notably including atypical pathologically proven PSP cases, MRI and clinical information of 15 pathologically proven typical and atypical PSP cases were retrospectively evaluated.

Results

In addition to typical symptoms, PSP patients can exhibit atypical symptoms including levodopa-responsive parkinsonism, pure akinesia, non-fluent aphasia, corticobasal syndrome, and predominant cerebellar ataxia. As well as clinical symptoms, the degree of midbrain atrophy, a well-known imaging hallmark, is not consistent in atypical PSP cases. This fact has important implications for the limitation of midbrain atrophy as a diagnostic imaging biomarker of PSP pathology. Additional evaluation of other imaging findings including various regional atrophies of the globus pallidus, frontal lobe, cerebral peduncle, and superior cerebellar peduncle is essential for the diagnosis of atypical PSP cases.

Conclusion

It is necessary for radiologists to recognize the wide clinical and radiological spectra of typical and atypical PSP cases.

     

Sleep disordered breathing in childhood-onset acid maltase deficiency

Objectives: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD. Study design: We retrospectively studied 4 patients with childhood-onset AMD by analyzing the results of neurological examinations for muscle wasting and muscle strength and the data on venous gas and from a pulmonary function test and nocturnal polysomnography (PSG). Results: Three out of the 4 patients showed muscular symptoms including myalgia, lordoscoliosis, muscle wasting and muscle weakness. They also complained of sleep-related symptoms such as tiredness in the morning and daytime sleepiness. All of them showed SDB by PSG, even in a patient in the earliest stage who exhibited no signs or symptoms of muscle weakness. In 3 patients, noninvasive intermittent positive pressure ventilation during sleep was introduced; and thereafter sleep-related symptoms were resolved and no lower respiratory infection reoccurred. Although their quality of life was improved, no improvement of respiratory function was shown by spirometry over a 2-year follow-up period. Conclusions: SDB seems to be common in childhood-onset AMD, which is not always accompanied by daytime muscular symptoms, especially in mild patients. PSG should be utilized for detecting SDB, which could be one of the earliest signs of respiratory muscle involvement in childhood-onset AMD.     

Novel partial deletions,frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy

Background and purpose

Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features.

Methods

Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by long-read sequencing. Ligand-dependent autophosphorylation of CSF1R was examined in cells expressing the CSF1R mutants identified in this study.

Results

CSF1R mutations were identified in 15 patients, accounting for 15% of the adult-onset leukoencephalopathy cases. Seven novel and five previously reported CSF1R mutations were identified. The novel mutations, including three missense and one in-frame 3 bp deletion, were located in the tyrosine kinase domain (TKD) of CSF1R. Functional assays revealed that none of the novel mutations in the TKD showed autophosphorylation of CSF1R. Two partial deletions of CSF1R were identified that resulted in lack of the C-terminal region, including the distal TKD, in two patients. Various clinical features including cognitive impairment, psychiatric symptoms and gait disturbance were observed. Various degrees of the white matter lesions and corpus callosum abnormalities on magnetic resonance imaging and characteristic calcifications on computed tomography were observed as imaging features.

Conclusions

Our results highlight the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveals no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R-related leukoencephalopathy.     

A new method of immobilization after traumatic anterior dislocation of the shoulder: a preliminary study

This preliminary prospective study was conducted to determine whether immobilization with the arm in external rotation would decrease the rate of recurrence after initial traumatic anterior dislocation of the shoulder. Forty patients with initial shoulder dislocations were assigned to (1) conventional immobilization in internal rotation (IR group, n = 20) or (2) a new method of immobilization in external rotation (ER group, n = 20). The recurrence rate was 30% in the IR group and 0% in the ER group at a mean 15.5 months. The difference in recurrence rate was even greater among those who were aged less than 30 years (45% in the IR group and 0% in the ER group). Immobilization with the arm in external rotation is effective in reducing the rate of recurrence after initial dislocation of the shoulder.     

Does supplementation of contrast MR imaging with thallium-201 brain SPECT improve differentiation between benign and malignant ring-like contrast-enhanced cerebral lesions?

Objective To determine whether thallium-201 (²⁰¹Tl) brain single photon emission computed tomography (SPECT) could supplement magnetic resonance (MR) imaging diagnostic information by visual comparison of two separate data sets from patients with ring-like contrast-enhanced cerebral lesions. Methods A combination of MR imaging and ²⁰¹Tl brain SPECT sets obtained from 13 patients (10 men, 3 women) ranging in age from 26 years to 86 years (mean 61.0 years) were retrospectively reviewed. A total of 12 patients had a solitary lesion, and the others had multiple lesions. All but two intracranial foci were pathologically confirmed. The final diagnoses were six glioblastomas, two cerebral metastases from lung cancer, and one each of abscess, resolving hematoma, primary central nervous system lymphoma, toxoplasmosis, and radiation necrosis. The two separate image formats (MR images and SPECT) were shown to ten readers with practical experience. All of the MR images for each patient were shown to each reader first. After interpreting them, the readers were shown the SPECT images. Images were scored in terms of how benign or malignant the foci were on a 5-point scale from “definitely benign” to “definitely malignant.” Results The improvement in the performance of all ten readers was from 67.7% to 93.8% in mean accuracy (P = 0.0028) and from 0.730 to 0.971 in mean Az value (P = 0.0069) after they were shown the ²⁰¹Tl brain SPECT images. Conclusions ²⁰¹Tl brain SPECT should substantially increase confidence in the diagnosis of intracranial lesions with ring-like contrast enhancement when MR imaging does not permit differentiation between benign and malignant disease.     

Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan

We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment protocols and efficacy. In 279 treated patients, 261 SE occurrences at ages between 1 month and 15 years were analyzed. SE was classified as showing continuous, clustered, or frequently repeated seizures. Considering efficacy and side effects in combination, the usefulness of lidocaine was classified into six categories: extremely useful, useful, slightly useful, not useful, associated with deterioration, or unevaluated. In 148 SE cases (56.7%), lidocaine was rated as useful or extremely useful. Multivariate analysis indicated lidocaine was to be useful in SE with clustered and frequently repeated seizures, and SE attributable to certain acute illnesses, such as convulsions with mild gastroenteritis. Efficacy was poor when SE caused by central nervous system (CNS) infectious disease. Standard doses (approximately 2mg/kg as a bolus, 2mg/kg/h as maintenance) produced better outcomes than lower or higher doses. Poor responders to the initial bolus injection of lidocaine were less likely to respond to subsequent continuous infusion than good initial responders. We recommend lidocaine for use in SE with clustered or frequently repeated seizures, and in SE associated with benign infantile convulsion and convulsions with mild gastroenteritis. Lidocaine should be initiated with a bolus of 2mg/kg. If SE is arrested by the bolus, continuous maintenance infusion should follow; treatment should proceed to different measures when SE shows a poor response to the initial bolus of lidocaine.